Among many health challenges is a congenital heart defect known as bicuspid aortic valve (BAV), a condition that has necessitated multiple surgeries and a lifelong commitment to health management.
Bicuspid aortic valve disease, where the aortic valve has two leaflets instead of the normal three, is the most common congenital heart defect, affecting up to 2% of the population.
Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.
While bicuspid aortic valves are known to be associated with aortic dilation and dissection, the risk of dissection in this population has recently been called into question. Michelena and ...